Carregant...
Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report
BACKGROUND: Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. CASE PRESENTATION: A G1 at 21w + 3d came to our institution for the second-trimester ultrasound an...
Guardat en:
| Publicat a: | BMC Pregnancy Childbirth |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2021
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8243643/ https://ncbi.nlm.nih.gov/pubmed/34187405 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12884-021-03952-w |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|